about
Sox9 and NFIA coordinate a transcriptional regulatory cascade during the initiation of gliogenesisMutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenanceRecurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalitiesClinical course of sly syndrome (mucopolysaccharidosis type VII)Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations22q13.3 deletion syndrome: clinical and molecular analysis using array CGHStructures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humansRecurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head sizeRenal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemiaNeurologic dysfunction and male infertility in Drosophila porin mutants: a new model for mitochondrial dysfunction and disease.Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse.De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndromeMitochondrial fusion but not fission regulates larval growth and synaptic development through steroid hormone production.Glial lipid droplets and ROS induced by mitochondrial defects promote neurodegeneration.Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration.Noninvasive, in vivo approaches to evaluating behavior and exercise physiology in mouse models of mitochondrial disease.Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.6q22.1 microdeletion and susceptibility to pediatric epilepsy.Genetic approaches to analyzing mitochondrial outer membrane permeability.Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress.Expanding the Molecular and Clinical Phenotype of SSR4-CDG.Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United StatesGenetic strategies for dissecting mammalian and Drosophila voltage-dependent anion channel functions.Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.Activin signaling: effects on body composition and mitochondrial energy metabolismRecurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.Screen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion.The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.Voltage-dependant anion channels: novel insights into isoform function through genetic models.Diagnostic challenges of mitochondrial disorders: complexities of two genomes.The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.Increased COUP-TFII expression in adult hearts induces mitochondrial dysfunction resulting in heart failure.Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 geneMaternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family.
P50
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P50
description
hulumtues
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Brett H Graham
@ast
Brett H Graham
@en
Brett H Graham
@es
Brett H Graham
@nl
Brett H Graham
@sl
type
label
Brett H Graham
@ast
Brett H Graham
@en
Brett H Graham
@es
Brett H Graham
@nl
Brett H Graham
@sl
prefLabel
Brett H Graham
@ast
Brett H Graham
@en
Brett H Graham
@es
Brett H Graham
@nl
Brett H Graham
@sl
P106
P21
P31
P496
0000-0001-8451-8154